Variant report

Variant	rs1871999
Chromosome Location	chr12:56220122-56220123
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56217816..56225905-chr12:56319649..56327312,13	K562	blood:
2	chr12:56217992..56226798-chr12:56311494..56331042,68	MCF-7	breast:
3	chr12:56219783..56227072-chr12:56318292..56323886,14	K562	blood:
4	chr12:56217492..56232243-chr12:56318854..56330686,48	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170473	Chromatin interaction
ENSG00000065357	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1466512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1681085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1725358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449476	1.00[AMR][1000 genomes]
rs2462938	1.00[AMR][1000 genomes]
rs2694008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2694015	1.00[AMR][1000 genomes]
rs2887997	1.00[AMR][1000 genomes]
rs4759012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4759202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55884432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7310325	1.00[AMR][1000 genomes]
rs772250	1.00[AMR][1000 genomes]
rs772252	1.00[AMR][1000 genomes]
rs772253	1.00[AMR][1000 genomes]
rs772256	1.00[AMR][1000 genomes]
rs772257	1.00[AMR][1000 genomes]
rs772259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772261	1.00[AMR][1000 genomes]
rs7956337	1.00[AMR][1000 genomes]
rs7963379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56213000-56220400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:56213000-56221000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:56213400-56220200	Strong transcription	HSMM	muscle
4	chr12:56213400-56221000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:56216400-56221000	Weak transcription	Small Intestine	intestine
6	chr12:56216600-56221000	Weak transcription	Aorta	Aorta
7	chr12:56216800-56221000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:56217000-56221000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:56217000-56221000	Enhancers	HepG2	liver
10	chr12:56217000-56221200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:56217200-56220200	Enhancers	Fetal Intestine Large	intestine
12	chr12:56217200-56221000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:56217200-56221000	Weak transcription	Lung	lung
14	chr12:56217200-56221000	Weak transcription	Ovary	ovary
15	chr12:56217200-56221000	Weak transcription	Right Ventricle	heart
16	chr12:56217200-56221000	Weak transcription	NHLF	lung
17	chr12:56217200-56221200	Weak transcription	Esophagus	oesophagus
18	chr12:56217400-56220200	Weak transcription	Colonic Mucosa	Colon
19	chr12:56217400-56221000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:56217400-56221000	Weak transcription	Psoas Muscle	Psoas
21	chr12:56217400-56221000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:56217400-56221000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:56217400-56221000	Weak transcription	NH-A	brain
24	chr12:56217400-56222400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:56217400-56222400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:56217400-56222600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:56217600-56220600	Weak transcription	Osteobl	bone
28	chr12:56217600-56221000	Weak transcription	HSMMtube	muscle
29	chr12:56217800-56220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:56217800-56220200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr12:56217800-56221000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:56217800-56221200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:56217800-56221200	Enhancers	Liver	Liver
34	chr12:56218000-56221000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:56218000-56221000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:56218000-56221600	Weak transcription	Fetal Kidney	kidney
37	chr12:56218000-56222200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:56218000-56222600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:56218200-56221000	Enhancers	Brain Angular Gyrus	brain
40	chr12:56218200-56221000	Enhancers	Brain Hippocampus Middle	brain
41	chr12:56218200-56221000	Enhancers	Fetal Brain Male	brain
42	chr12:56218200-56221200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr12:56218200-56222200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:56218200-56222400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:56218200-56222600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:56218200-56222600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:56218400-56220200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr12:56218400-56221000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:56218400-56221000	Weak transcription	NHDF-Ad	bronchial
50	chr12:56218400-56221200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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